View genomic variant #0000003645

Chromosome X
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.32834612G>T
Published as -
GERP 5.510
Segregation -
DB-ID DMD_000002
dbSNP ID rs128626236
Frequency -
Sources ; clinvar;
Reference 7951253
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
DMD NM_004006.2 +/+ c.503C>A p.(Ala168Asp) missense_variant - 6/79 probably_damaging(0.997) r.(?) deleterious(0)


ClinVar @ MSeqDR

26269
MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009
Becker muscular dystrophy
HGVS variant names NC 000023.10:g.32834612G>T
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:300377.0033
Gene symbol:Gene id. DMD:1756
SO:0001583|missense variant
1
dbSNP ID 128626236
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

variation_namechromseq_region_startseq_region_endallele_stringminor_alleleminor_allele_freqvariation_setPhenotype_description
rs128626236X3283461232834612G/TOMIM phenotype variantsBECKER MUSCULAR DYSTROPHY
CM940338X3283461232834612HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available